Variant report

Variant	rs2291910
Chromosome Location	chr12:117486642-117486643
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4G	chr12:117485895-117486650	HepG2	liver:	n/a	n/a
2	MBD4	chr12:117485846-117486698	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:117485589-117486905	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:117485715-117486886	HL-60	blood:	n/a	n/a
5	NR2F2	chr12:117485724-117486767	HepG2	liver:	n/a	n/a
6	FOXA2	chr12:117485745-117486944	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:117486251-117486665	HepG2	liver:	n/a	n/a
8	CCNT2	chr12:117486450-117486728	K562	blood:	n/a	n/a
9	POLR2A	chr12:117486245-117487423	NB4	blood:	n/a	n/a

Variant related genes	Relation type
TESC	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10744888	0.90[CEU][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs11068326	0.89[CEU][hapmap]
rs11610361	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11613556	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11615600	1.00[CEU][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs2062526	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062527	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2062529	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs2291911	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs55986180	0.92[EUR][1000 genomes]
rs56228868	0.92[EUR][1000 genomes]
rs7316090	0.89[CEU][hapmap]
rs7956233	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2291910	SDS	cis	cerebellum	SCAN
rs2291910	FBXW8	cis	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117479600-117488000	Enhancers	Fetal Heart	heart
2	chr12:117483600-117489200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:117483800-117487000	Genic enhancers	Spleen	Spleen
4	chr12:117483800-117488400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:117483800-117498000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:117483800-117498200	Weak transcription	Brain Angular Gyrus	brain
7	chr12:117483800-117498200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:117484000-117487000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:117484000-117490000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:117484000-117490800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:117484000-117493600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:117484200-117487400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:117484200-117488800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:117484400-117487400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:117484400-117489400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:117484400-117489600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:117484400-117490200	Weak transcription	Fetal Brain Female	brain
18	chr12:117484400-117497800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:117484600-117487200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:117484600-117487400	Strong transcription	Dnd41	blood
21	chr12:117484600-117487600	Weak transcription	Fetal Brain Male	brain
22	chr12:117484600-117488000	Weak transcription	Brain Germinal Matrix	brain
23	chr12:117484800-117486800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr12:117484800-117498200	Weak transcription	Thymus	Thymus
25	chr12:117485000-117487400	Genic enhancers	Pancreas	Pancrea
26	chr12:117485600-117486800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:117485600-117487000	Bivalent Enhancer	Fetal Stomach	stomach
28	chr12:117485600-117487200	Enhancers	Placenta	Placenta
29	chr12:117485600-117487400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:117485600-117487400	Enhancers	Right Ventricle	heart
31	chr12:117485800-117486800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:117485800-117486800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:117485800-117486800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr12:117485800-117487000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:117485800-117487000	Enhancers	Lung	lung
36	chr12:117485800-117487200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:117485800-117487200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:117485800-117487200	Enhancers	Right Atrium	heart
39	chr12:117485800-117487200	Enhancers	HSMMtube	muscle
40	chr12:117485800-117487400	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr12:117485800-117487400	Enhancers	Left Ventricle	heart
42	chr12:117485800-117487400	Enhancers	Ovary	ovary
43	chr12:117485800-117487600	Enhancers	Fetal Muscle Trunk	muscle
44	chr12:117485800-117488000	Enhancers	Fetal Muscle Leg	muscle
45	chr12:117485800-117490600	Enhancers	K562	blood
46	chr12:117486000-117486800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr12:117486000-117486800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:117486000-117486800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:117486000-117486800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:117486000-117487000	Enhancers	Duodenum Smooth Muscle	Duodenum

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